Sanjad-Sakati syndrome

Sanjad-Sakati Syndrome Sanjad-Sakati Syndrome (SSS), also known as Hypoparathyroidism-Retardation-Dysmorphism Syndrome, is a rare genetic disorder characterized by a combination of endocrine, developmental, and physical abnormalities. This condition is primarily observed in individuals of Middle Eastern descent, particularly those from the Arabian Peninsula.

Clinical Features

Sanjad-Sakati Syndrome is marked by a variety of clinical features, which can vary in severity among affected individuals. The primary characteristics include:

• Hypoparathyroidism: This is a key feature of SSS, leading to low levels of calcium in the blood (hypocalcemia) and high levels of phosphate (hyperphosphatemia). Symptoms of hypocalcemia can include muscle cramps, seizures, and tetany.
• Growth Retardation: Individuals with SSS often exhibit significantly reduced growth, resulting in short stature.
• Developmental Delay: Affected individuals may experience delays in reaching developmental milestones, as well as intellectual disability.
• Dysmorphic Features: These can include a small head size (microcephaly), deep-set eyes, a beaked nose, and a small mouth.
• Other Features: Additional symptoms may include dental anomalies, seizures, and immune system deficiencies.

Genetic Basis

Sanjad-Sakati Syndrome is caused by mutations in the TBCE gene, which is located on chromosome 1q42.3. The TBCE gene is responsible for encoding a protein involved in the assembly of tubulin, a component of the cellular cytoskeleton. Mutations in this gene disrupt normal cellular function, leading to the symptoms observed in SSS. SSS is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder.

Diagnosis

Diagnosis of Sanjad-Sakati Syndrome is based on clinical evaluation, identification of characteristic symptoms, and genetic testing to confirm mutations in the TBCE gene. Biochemical tests revealing hypocalcemia and hyperphosphatemia can also support the diagnosis.

Management

There is currently no cure for Sanjad-Sakati Syndrome, and treatment focuses on managing symptoms and improving quality of life. Management strategies may include:

• Calcium and Vitamin D Supplementation: To address hypocalcemia and prevent complications such as seizures.
• Hormone Replacement Therapy: In some cases, parathyroid hormone replacement may be considered.
• Developmental Support: Early intervention programs, special education, and physical therapy can help manage developmental delays and improve functional outcomes.

Epidemiology

Sanjad-Sakati Syndrome is a rare condition, with most cases reported in the Middle East. The exact prevalence is unknown, but it is considered to be more common in populations with a high rate of consanguinity.

History

The syndrome was first described in 1988 by Dr. Sanjad and Dr. Sakati, who identified the unique combination of symptoms in a group of patients from Saudi Arabia.

See Also

• Hypoparathyroidism
• Genetic Disorders
• Endocrine Disorders
• Sanjad, S. A., & Sakati, N. A. (1988). Hypoparathyroidism-retardation-dysmorphism syndrome: A newly recognized autosomal recessive disorder. *Journal of Medical Genetics*.
• Online Mendelian Inheritance in Man (OMIM) entry for Sanjad-Sakati Syndrome.

NIH genetic and rare disease info

• NIH info on Sanjad-Sakati syndrome

Sanjad-Sakati syndrome is a rare disease.